U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC113219434 greater CFTR locus negative regulatory element NR4 [ Homo sapiens (human) ]

Gene ID: 113219434, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC113219434
Gene description
greater CFTR locus negative regulatory element NR4
Gene type
biological region
Feature type(s)
regulatory: enhancer_blocking_element
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This nonconserved genomic region, which is located in an intron of the ST7 (suppression of tumorigenicity 7) gene in the greater CFTR locus on chromosome 7, represents an enhancer-blocking element that was shown to strongly block activation of an SV40 promoter by the HS2 beta-globin enhancer when positioned between the enhancer and promoter in transfected K562 and 293T cells. [provided by RefSeq, Sep 2018]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC113219434 in Genome Data Viewer
Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (117088745..117089385)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118404395..118405035)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (116728799..116729439)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene suppression of tumorigenicity 7 Neighboring gene tropomyosin 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18569 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:116659304-116660503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26541 Neighboring gene microRNA 6132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26542 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:116716803-116717302 Neighboring gene ST7 antisense RNA 2 Neighboring gene uncharacterized LOC124901732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26544 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:116794856-116795649 Neighboring gene greater CFTR locus negative regulatory element CR10 Neighboring gene greater CFTR locus negative regulatory element CR11 Neighboring gene ST7 overlapping transcript 3

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Detection and characterization of silencers and enhancer-blockers in the greater CFTR locus. Petrykowska HM, et al. Genome Res, 2008 Aug. PMID 18436892, Free PMC Article
  2. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • greater CFTR locus enhancer-blocking element NR4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_061702.1 

    Range
    101..741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    117088745..117089385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    118404395..118405035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases